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ATP2A1 / SERCA1
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A1 / SERCA1 is one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms.
| Gene Name: | ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 |
| Family/Subfamily: | Transporter , ATPase - P type, type IIA |
| Synonyms: | ATP2A1, SERCA1, ATP2A, Calcium pump 1, SR Ca(2+)-ATPase 1 |
| Target Sequences: | NM_004320 NP_004311.1 O14983 |
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